Canonical Allele Identifier: CA2833109
Gene: MSX1 HGNC NCBI

Linked Data

dbSNP Id: rs760820054
ExAC: 4:4864717 C / G
gnomAD v2: 4-4864717-C-G
gnomAD v3: 4-4862990-C-G
gnomAD v4: 4-4862990-C-G
MyVariant Identifiers: chr4:g.4864717C>G (hg19) chr4:g.4862990C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4862990C>G , CM000666.2:g.4862990C>G GRCh38
NC_000004.11:g.4864717C>G , CM000666.1:g.4864717C>G GRCh37
NC_000004.10:g.4915618C>G NCBI36
NG_008121.1:g.8326C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382723.5:c.759C>G MANE Select ENSP00000372170.4:p.Leu253=
ENST00000382723.4:c.759C>G ENSP00000372170.4:p.Leu253=
ENST00000468421.1:n.471C>G
NM_002448.3:c.759C>G MANE Select NP_002439.2:p.Leu253=
Search 100 bp 5'
Search 100 bp 3'